Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1195-1198, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-781318
ABSTRACT
OBJECTIVE@#To carry out variant analysis for a fetus suspected with harlequin ichthyosis (HI).@*METHODS@#Whole exome sequencing (WES) was employed to detect potential variant in the fetus. Suspected variant was validated by Sanger sequencing.@*RESULTS@#A homozygous missense variant c.6858delT (p.F2286fs) was detected in the fetus, for which both parents were heterozygous carriers. Pathological analysis confirmed the diagnosis of HI.@*CONCLUSION@#The c.6858delT variant of the ABCA12 gene probably underlies the disease in the fetus.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Testes Genéticos
/
Ictiose Lamelar
/
Transportadores de Cassetes de Ligação de ATP
/
Feto
/
Genética
/
Heterozigoto
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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